Conditions / Genetic

X-linked cone-rod dystrophy 1

info · Genetic

A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11.

Signs and symptoms

  • Retinal pigment epithelial mottling
  • Hypoautofluorescent macular lesion
  • Nyctalopia
  • Color vision defect
  • Nystagmus
  • Photophobia
  • Reduced visual acuity
  • Visual impairment
  • Retinal pigment epithelial atrophy
  • Myopia

Also known as: COD1; CORDX1; X-linked cone dystrophy 1